Diagnóstico precoce da síndrome de Prader-Willi em pediatria: série de três casos clínicos

Abstract

Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by neonatal hypotonia, feeding difficulties, developmental delay, and behavioral changes, progressing to hyperphagia and obesity. Early diagnosis allows for interventions that modify the prognosis and quality of life of the child. We report three cases diagnosed in the first years of life at the Martagão Gesteira Institute of Childcare and Pediatrics (IPPMG-UFRJ), highlighting the importance of early clinical recognition and genetic confirmation for effective treatment and a good response.